TRIMETHYLAMINURIA (FISH-ODOR SYNDROME) - A STUDY OF AN AFFECTED FAMILY
TRIMETHYLAMINURIA (FISH-ODOR SYNDROME) - A STUDY OF AN AFFECTED FAMILY
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DOI：
10.1042/cs0740231
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发表时间：
1988-03-01
期刊：
影响因子：
6
通讯作者：
SMITH, RL
中科院分区：
文献类型：
--
作者：
ALWAIZ, M;AYESH, R;SMITH, RL
1.从一名曾在10岁时被诊断出患有三甲基胺尿症（鱼臭综合症）的先证者开始，对她的父母和两个姐妹篇进行了N-氧化三甲基胺（TMA）的能力进行了生化研究，无论是从饮食中获得还是从外源性给予。2.先证者和第二个姐妹都明显缺乏N-氧化TMA的能力，无论是从饮食中获得的还是给予的;此外，两个兄弟姐妹都很容易出现鱼臭综合征的症状，其特征是口服TMA（300 mg）后不久出现强烈的令人讨厌的呼吸和体臭。3.在这个剂量水平的TMA下，父母和第三个妹妹都没有表现出任何N-氧化能力受损的证据，也没有出现任何“鱼腥味”症状。4.通过口服600 mg TMA，父母均显示出明显的N-氧化能力受损，这在6名健康无关志愿者中未观察到。在该水平的TMA激发下，父母双方均出现鱼腥味综合征。5.家族数据支持这一假设，即三甲基氨基尿症是一种先天性缺陷的N-氧化TMA的能力，这是遗传作为一个常染色体隐性性状。此外，该家族的经验表明，口服600 mg TMA的激发剂量可用于识别疾病携带者。
1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were markedly deficient in their ability to N-oxidize TMA, both when derived from the diet and when given as such; furthermore, both siblings readily developed the symptoms of fish-odour syndrome as characterized by a strong objectionable breath and body odour shortly after the oral administration of TMA (300 mg). 3. At this dose level of TMA, neither of the parents nor the third sister showed any evidence of impaired N-oxidation ability nor did they experience any ''fish-odour'' symptoms. 4. With an oral challenge of 600 mg of TMA, both the parents showed a clear impairment of N-oxidation capacity which was not seen in six healthy unrelated volunteers. Both parents experienced a fish-odour syndrome at this level of TMA challenge. 5. The family data support the hypothesis that trimethylaminuria is an inborn error in the ability to N-oxidize TMA which is inherited as an autosomal recessive trait. Furthermore, experience with this family suggests that an oral challenge dose with 600 mg of TMA may be used to identify carriers of the condition.